Osteoglophonic Dwarfism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0432283
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Genes

87 genes associated with the disease Osteoglophonic Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANXA2 annexin A2
AQP4 aquaporin 4
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BIRC5 baculoviral IAP repeat containing 5
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAT catalase
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL10 chemokine (C-X-C motif) ligand 10
DDIT3 DNA-damage-inducible transcript 3
ELK1 ELK1, member of ETS oncogene family
EPHB2 EPH receptor B2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP3 FK506 binding protein 3, 25kDa
FXYD1 FXYD domain containing ion transport regulator 1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GLRX glutaredoxin (thioltransferase)
GRAP2 GRB2-related adaptor protein 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGB1 high mobility group box 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IL10 interleukin 10
IL1B interleukin 1, beta
IL6 interleukin 6
KLF2 Kruppel-like factor 2
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MBP myelin basic protein
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MOAP1 modulator of apoptosis 1
MSC musculin
NEUROG2 neurogenin 2
NFE2L2 nuclear factor, erythroid 2-like 2
NOTCH1 notch 1
NTN1 netrin 1
OCA2 oculocutaneous albinism II
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PTEN phosphatase and tensin homolog
PTK2B protein tyrosine kinase 2 beta
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNF41 ring finger protein 41, E3 ubiquitin protein ligase
RNPS1 RNA binding protein S1, serine-rich domain
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SIRT1 sirtuin 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SOD1 superoxide dismutase 1, soluble
SPHK2 sphingosine kinase 2
TEK TEK tyrosine kinase, endothelial
THBS1 thrombospondin 1
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TSLP thymic stromal lymphopoietin
TSPAN33 tetraspanin 33
ULK1 unc-51 like autophagy activating kinase 1
USP8 ubiquitin specific peptidase 8
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VSIG4 V-set and immunoglobulin domain containing 4
VWF von Willebrand factor
XBP1 X-box binding protein 1